p53 alterations in porokeratosis

Arranz-Salas, Isabel; Sánz-Trelles, A.; Ojeda, Dolores Bautista

doi:10.1034/j.1600-0560.2003.00097.x

Cited by 38 publications

(36 citation statements)

References 20 publications

(36 reference statements)

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“…Mongiat et al [18] demonstrated that knockdown of EMILIN2 increased tumor cell survival, while overexpression impaired tumor cell growth in vitro. Moreover, an increased expression of the p53 tumour suppressor gene product has been found in keratinocytes under or adjacent to the cornoid lamella in all subtypes of porokeratosis [21].…”

Section: Discussionmentioning

confidence: 98%

Identification of an Interstitial 18p11.32-p11.31 Duplication Including the EMILIN2 Gene in a Family with Porokeratosis of Mibelli

et al. 2013

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Porokeratosis is a rare disease of epidermal keratinization characterized by the histopathological feature of the cornoid lamella, a column of tightly fitted parakeratocytic cells, whose etiology is still unclear. Porokeratosis of Mibelli is a subtype of porokeratosis presenting a single plaque or a small number of plaques of variable size located unilaterally on limbs. It frequently appears in childhood and occurs with a higher incidence in males. Cytogenetic analyses were performed in all members of the family on lesioned and uninvolved skin. An array-CGH analysis was also performed utilizing the Human Genome CGH Microarray Kit G3 400 with 5.3 KB overall median probe spacing. Gene expression was performed on skin fibroblasts. In this study, we describe a Caucasian healthy 4-year-old child and his father showing features of porokeratosis of Mibelli. Array-CGH analysis revealed an interstitial 429.5 Kb duplication of chromosome 18p11.32-p11.3 containing four genes, namely: SMCHD1, EMILIN2, LPIN2, and MYOM1 both in patient and his father. EMILIN2 resulted overexpressed on skin fibroblasts. Also other members of this family, without evident signs of porokeratosis, carried the same duplication. Among these genes, we focused our attention on elastin microfibril interfacer 2 (EMILIN2) gene. Apoptosis plays a fundamental role in maintaining epidermal homeostasis, balancing keratinocytes proliferation, and forming the stratum corneum. EMILIN2 is known to trigger the apoptosis of different cell lines negatively affecting cell survival. It is expressed in the skin. We could speculate that the duplication and overexpression of EMILIN2 cause an abnormal apoptosis of epidermal keratinocytes and alter the process of keratinization, even if other epigenetic and genetic factors could also be involved. Our results could contribute to a better understanding of the pathogenesis of porokeratosis of Mibelli.

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Section: Discussionmentioning

confidence: 98%

Identification of an Interstitial 18p11.32-p11.31 Duplication Including the EMILIN2 Gene in a Family with Porokeratosis of Mibelli

et al. 2013

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“…Overexpression of p53 has frequently been reported, but is of dubious significance (7). Cyclooxygenase-2 (COX-2) overexpression has also been observed in non-melanic skin tumors and in 20% of PK cases (8).…”

Section: Discussionmentioning

confidence: 99%

Genital porokeratosis: Treatment with diclofenac topical gel

Kluger

Dereure

Guilhou

et al. 2007

Journal of Dermatological Treatment

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Genital porokeratosis (PK) is a rare and probably underestimated subset of PK that mostly affects middle-aged men. As in other clinical variants of PK, management can be difficult. Surgery and CO(2) laser vaporization may be efficient on individual lesions but topical treatment can be considered when the elements are more scattered and/or more numerous. We report the case of a 68-year-old man with a disseminated PK following a 20-year history of lesions restricted to the genitalia for whom 3% diclofenac gel succeeded in stabilizing their evolution and achieving symptomatic relief. In conclusion, topical diclofenac could be worth considering in the management of genital PK with numerous lesions.

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“…Accumulated filamentous actin in epidermal cells might disorganize epidermal cell morphogenesis (Kaji et al, 2003;Nishita et al, 2004). The rate of actin polymerization may influence not only the rate of cell division (Pelham and Chang, 2002), but also p53-mediated celluar response to DNA damage (Arranz-Salas et al, 2003;Okorokov et al, 2002), and therefore malignant changes of cells. Our findings suggested that actin cytoskeleton pathway was associated with the pathogenesis of DSAP.…”

Section: Discussionmentioning

confidence: 99%

Fine mapping and identification of a candidate geneSSH1 in disseminated superficial actinic porokeratosis

et al. 2004

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Disseminated superficial actinic porokeratosis (DSAP) is an uncommon autosomal dominant chronic keratinization disorder, characterized by multiple superficial keratotic lesions surrounded by a slightly raised keratotic border. Thus far, although two loci for DSAP have been identified, the genetic basis and pathogenesis of this disorder have not been elucidated yet. In this study, we performed a genome-wide linkage analysis in three Chinese affected families and localized the gene in an 8.0 cM interval defined by D12S330 and D12S354 on chromosome 12. Upon screening 30 candidate genes, we identified a missense mutation, p.Ser63Asn in SSH1 in one family, a frameshift mutation, p.Ser19CysfsX24 in an alternative variant (isoform f) of SSH1 in another family, and a frameshift mutation, p.Pro27ProfsX54 in the same alternative variant in one non-familial case with DSAP. SSH1 encodes a phosphatase that plays a pivotal role in actin dynamics. Our data suggested that cytoskeleton disorganization in epidermal cells is likely associated with the pathogenesis of DSAP.

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p53 alterations in porokeratosis

Cited by 38 publications

References 20 publications

Identification of an Interstitial 18p11.32-p11.31 Duplication Including the EMILIN2 Gene in a Family with Porokeratosis of Mibelli

Identification of an Interstitial 18p11.32-p11.31 Duplication Including the EMILIN2 Gene in a Family with Porokeratosis of Mibelli

Genital porokeratosis: Treatment with diclofenac topical gel

Fine mapping and identification of a candidate geneSSH1 in disseminated superficial actinic porokeratosis

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